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Disease Ontology Browser
Machado-Joseph disease (DOID:1440)
Alliance: disease page
Synonyms: Azorean disease; MJD; SCA3; spinocerebellar ataxia 3; spinocerebellar ataxia type 3
Alt IDs: OMIM:109150, MESH:D017827, NCI:C84830, ORDO:98757, UMLS_CUI:C0024408
Definition: An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene.

Disease References using Mouse Models (24)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory